Bindu_2007_J.Child.Neurol_22_1401

Reference

Title : Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India - Bindu_2007_J.Child.Neurol_22_1401
Author(s) : Bindu PS , Taly AB , Christopher R , BharatKumar PV , Panda S , Netravathi M , Ravishankar S , Mahadevan A , Yasha TC , Gayathri N
Ref : Journal of Child Neurology , 22 :1401 , 2007
Abstract : Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipase levels were significantly low in both the patients, compared with controls, suggesting a diagnosis of cholesterol ester storage disease. Ptosis and external ophthalmoplegia have hitherto not been reported in cholesterol ester storage disease.
ESTHER : Bindu_2007_J.Child.Neurol_22_1401
PubMedSearch : Bindu_2007_J.Child.Neurol_22_1401
PubMedID: 18174560

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Citations formats

Bindu PS, Taly AB, Christopher R, BharatKumar PV, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha TC, Gayathri N (2007)
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India
Journal of Child Neurology 22 :1401

Bindu PS, Taly AB, Christopher R, BharatKumar PV, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha TC, Gayathri N (2007)
Journal of Child Neurology 22 :1401